Severe Positional Central Sleep Apnea in an Asymptomatic Adult With a PHOX2B Frameshift Mutation

We report an unusual case of an adult patient carrying a germline PHOX2B frameshift mutation and hence was diagnosed with congenital central hypoventilation syndrome. He came to medical attention after the mutation was identified in his daughter who presented with hypoventilation and a neuroblastoma...

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Detalhes bibliográficos
Publicado no:J Clin Sleep Med
Main Authors: Janssen, Hennie C.J.P., Vulto-van Silfhout, Anneke T., Jongmans, Marjolijn C.J., van der Hout, Annemieke H., Overeem, Sebastiaan
Formato: Artigo
Idioma:Inglês
Publicado em: American Academy of Sleep Medicine 2018
Assuntos:
Case Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6086954/
https://ncbi.nlm.nih.gov/pubmed/30092902
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5664/jcsm.7290
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